ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2391C>T (p.Ser797=)

gnomAD frequency: 0.00001  dbSNP: rs772225819
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190938 SCV001358581 likely benign Cardiomyopathy 2019-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500469 SCV001705257 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429841 SCV002742052 likely benign Cardiovascular phenotype 2020-10-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004010469 SCV004845896 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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